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Edmund Lee
Lives in Naperville, IL
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Gene Therapy Stops, Stabilizes Spinal Muscular Atrophy
http://www.neurologyadvisor.com/gene-therapy-stabilizes-spinal-muscular-atrophy/article/392690/

Researchers from The Ohio State University, Nationwide Children's Hospital and the University of Bern in Switzerland found that protein replacement gene therapy...
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Correcting Splicing Error Restores SMN in SMA Patient Cells
A group from the Department of Biomedical Sciences at Iowa State University is taking a step-by-step approach to solving SMA by restoring SMN expression through correcting the SMN2 exon 7 splicing error. From discovering a promising therapeutic target to taking that target to phase 3 clinical trials, the group is making great strides in developing SMA treatments and understanding the mechanisms of action behind treatment.
The group’s therapy is targeted for intronic splicing silencer N1 (ISS-N1). The molecule, which provides the basis for ISIS Pharmaceutical’s antisense drug ISIS-SMNRx, was found after the team conducted an in vivo selection of the entire exon 7. Their goal was to probe the importance of every gene residue in exon 7, discovering that the very last residue was extremely important. “The results of in vivo selection brought a new perspective to the field (of exon 7-splicing regulation) by demonstrating an intrinsic problem with [a different part of the exon than is usually studied],” wrote the team in “Splicing Regulation in Spinal Muscular Atrophy by an RNA Structure Formed by Long-Distance Interactions,” published in Annals of the New York Academy of Sciences.
The team then developed an antisense oligonucleotide-mediated approach to correct exon 7 splicing errors. While determining the mechanisms of action, the researchers discovered ISS-N1 interacts through internal stem through long-distance interaction-1 (ISTL1) with the middle of intron 7, part of an inhibitory region known as ISS-N2.
After conducting more experiments, the authors stated, “We demonstrate that an antisense oligonucleotide-mediated sequestration of ISS-N2 fully corrects SN2 exon 7 splicing and restores high levels of SMN in SMA patient cells. These results underscore the therapeutic potential of the regulatory information present in a secondary and high-order RNA structure of a human intron.”
http://smanewstoday.com/2015/03/10/correcting-splicing-error-restores-smn-in-sma-patient-cells/

what are they waiting for ?patients to get weaker?
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Edmund Lee

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CSF-Delivered Gene Therapy Shows Promise for Spinal Muscular Atrophy
http://www.prnewswire.com/news-releases/csf-delivered-gene-therapy-shows-promise-for-spinal-muscular-atrophy-281667421.html

ELK GROVE VILLAGE, Ill., Nov. 5, 2014 /PRNewswire-USNewswire/ -- A manuscript from the laboratory of Dr. Brian Kaspar of Nationwide ...
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AveXis Receives Orphan Drug Status from the US Food and Drug Administration (FDA) for chariSMA for the Treatment of Spinal Muscular Atrophy
Dallas, TX, October 04, 2014 --(PR.com)-- AveXis Inc., a synthetic biology platform company primarily focused on developing treatments for Spinal Muscular Atrophy (SMA) today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug...
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Orally delivered compounds, which selectively modify RNA splicing, prevent deficits in mouse models of Spinal Muscular Atrophy
Orally delivered compounds, which selectively modify RNA splicing, prevent deficits in mouse models of Spinal Muscular Atrophy

Results published in Science show small molecule SMN2 splicing modifiers to be effective in SMA mouse models



Today the journa...
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Update from Dr. Lorson at University of Missouri on Spinal Muscular Atrophy Program being Funded by Families of SMA

August 6, 2014

Christian Lorson PhD, investigator in the Bond Life Sciences Center and Professor of Veterinary Pathobiology at the Universi...
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Stem cell scientists develop more effective way to create motor neurons
Source: Stem cell scientists develop more effective way to create motor neurons Stem cell scientists develop more effective way to create motor neurons
by Mirabai Vogt-James
Stem cell scientists develop more effective way to create motor neurons
Often descr...
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'Deep learning' reveals unexpected genetic roots of cancers, autism and other disorders
http://medicalxpress.com/news/2014-12-deep-reveals-unexpected-genetic-roots.html


Frey’s team used computational deep learning techniques to train a system that mimics the process of splicing in the cell (left panel). Features such as motifs, RNA secondary...
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Researcher develops new potential spinal muscular atrophy treatment
http://www.healio.com/spine-surgery/spinal-cord-and-nerves/news/online/%7Bd94d3efb-ddec-4de0-8b9b-5bdfd3985846%7D/researcher-develops-new-spinal-muscular-atrophy-treatment

A researcher at the University of Missouri has developed a new compound found to be ...
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ISIS PHARMACEUTICALS REPORTS DATA FROM ISIS-SMNRX PHASE 2 STUDIES IN INFANTS AND CHILDREN WITH SPINAL MUSCULAR ATROPHY
Email from SMA Foundation Below:


ISIS PHARMACEUTICALS REPORTS DATA FROM ISIS-SMNRX PHASE 2 STUDIES IN INFANTS AND CHILDREN WITH SPINAL MUSCULAR ATROPHY



Phase 3 ENDEAR study in infants with SMA enrolling; on track to initiate Phase 3 study in children ...
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MU researchers make new breakthrough in spinal muscular atrophy drug
According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time. Now, researchers at ...
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Spinal Muscular Atrophy Mice Model Results Published in the Journal Science.
Spinal Muscular Atrophy Mice Model Results Published in the Journal Science.

August 7, 2014.

Today the journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of the SMN2 gene star...
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my mother almost died in my arms this summer
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Cult of Mac
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A daily news website that tracks Apple and the people who use its products

Instagram, Twitter posts begin to flow from North Korean 3G network
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This week, tourists (and at least one reporter) visiting North Korea began accessing the web directly from their smartphones, through the co

Naperville News and headlines from the Naperville Sun
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Naperville News and headlines from the Naperville Sun

TechCrunch | Google Collected 4.5 Million Anti-SOPA Signatures Today
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Google generally gets in hot water when it is thought to be abusing its pole position in the search industry. But it's no use denying that w

Scientists Have Worked Out How to Stop You Going Bald
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Going bald is the one big vanity concern among most men. But relax, it doesn't need to be that way; scientists have just worked out exactly

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Mark your calendars: Apple has summoned the press corps for a special even on January 19 in New York City. That's next Thursday. What's this

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F1 Online: The Game™ is the official online FORMULA ONE™ racing and management game. Race against your friends online and jump into drop-in-

How To Make Your iPhone’s Home Button More Responsive [iOS Tips] | Cult ...
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How To Make Your iPhone's Home Button More Responsive [iOS Tips]. Tweet. Share. By Alex Heath (8:09 pm, Dec 22). One of the unfortunate

Stellar Pride, Inc
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넥슨 프로야구마스터 2013
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No.1 전략야구 '넥슨 프로야구 마스터 2013' 스마트폰으로 경험하는 정통 시뮬레이션 야구게임, 야구 마스터들의 최종집결지!- 30년 프로야구 경기 결과를 반영한 시뮬레이션 엔진, 8개 프로구단 및 모든 선수를 반영한 높은 사실감을 경험하세요! -

Cube - A game about Google Maps
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Play your way through a cubic Google Maps world. Travel through New York, Tokyo and many other cities and learn all about the great features

UC Berkeley class prepares disabled students for competitive job market
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If it’s a tough job market out there for able-bodied college graduates, imagine how employment prospects might look to students with cerebra

YP Yellow Pages & Gas Prices
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Need a cup of coffee, want to find a good pizza place in town? Like to read menus or reviews before choosing a restaurant? How about finding

Free calling within the US and Canada through 2012 | Official Gmail Blog
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Free calling within the US and Canada through 2012. Posted by Vincent Paquet, Group Product Manager As the holiday season approaches, we&#39

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Exclusive First Look: Microsoft Word's Interface For iPad [Humor]. Tweet. Share. By John Brownlee (8:19 am, Nov 30). Exclusive First Loo

Why Ideas are Unprofitable - BusinessWeek
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American companies are not proficient at turning original concepts into vibrant businesses. What they need is a balanced approach to innovat